| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3391A>T | p.Asn1131Tyr | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAC | Asn | TAC | Tyr | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | Ca2+ binding | Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.67 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA02OMA F0006 I498 | Proband | NA | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| no clinical data |
| Reference ID | PubMed ID | Reference |
| 35 | 9101298 | Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. "Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome". Hum Mutat 1997;9(4):359-62 . |